Canonical Allele Identifier: CA2612218869
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319129-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319129G>A , CM000673.2:g.6319129G>A GRCh38
NC_000011.9:g.6340359G>A , CM000673.1:g.6340359G>A GRCh37
NC_000011.8:g.6296935G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*34C>T MANE Select ENSP00000307292.3:n.*34C>T
ENST00000303927.3:c.*34C>T ENSP00000307292.3:n.*34C>T
ENST00000532354.1:n.842C>T
NM_145040.2:c.*34C>T NP_659477.2:n.*34C>T
XR_930997.1:n.720+909G>A
NM_145040.3:c.*34C>T MANE Select NP_659477.2:n.*34C>T